Description: Homo sapiens FK506 binding protein 14, 22 kDa (FKBP14), transcript variant 1, mRNA. RefSeq Summary (NM_017946): The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]. Transcript (Including UTRs) Position: hg19 chr7:30,050,199-30,066,417 Size: 16,219 Total Exon Count: 4 Strand: - Coding Region Position: hg19 chr7:30,054,351-30,066,124 Size: 11,774 Coding Exon Count: 4
ID:FKB14_HUMAN DESCRIPTION: RecName: Full=Peptidyl-prolyl cis-trans isomerase FKBP14; Short=PPIase FKBP14; EC=5.2.1.8; AltName: Full=22 kDa FK506-binding protein; Short=22 kDa FKBP; Short=FKBP-22; AltName: Full=FK506-binding protein 14; Short=FKBP-14; AltName: Full=Rotamase; Flags: Precursor; FUNCTION: PPIases accelerate the folding of proteins during protein synthesis. CATALYTIC ACTIVITY: Peptidylproline (omega=180) = peptidylproline (omega=0). SUBCELLULAR LOCATION: Endoplasmic reticulum lumen. DISEASE: Defects in FKBP14 are the cause of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) [MIM:614557]. A syndrome with features of Ehlers-Danlos syndrome types VIA and VIB on the one hand, and the collagen VI- related congenital myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy on the other hand. Clinically, this disorder is characterized by the following features: severe generalized hypotonia at birth with marked muscle weakness that improve in infancy; early-onset progressive kyphoscoliosis; joint hypermobility without contractures; hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring; myopathy as confirmed by muscle MRI, histology, and electron microscopy; hearing impairment, which is predominantly sensorineural; and a normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine. SIMILARITY: Contains 2 EF-hand domains. SIMILARITY: Contains 1 PPIase FKBP-type domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NWM8
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000413 protein peptidyl-prolyl isomerization GO:0036498 IRE1-mediated unfolded protein response GO:0061077 chaperone-mediated protein folding
US Server
